| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 4B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +5 more | |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 4B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +3 more | |
| | | Microsatellite (inframe_insertion) | Congenital myasthenic syndrome 4B +3 more | |
| | LOC130060041, CHRNE (E348K) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4B +2 more | |
| | C17orf107, CHRNE (M312del) | Deletion (5 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myasthenic syndrome 4B +4 more | |
| | | Indel (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4B +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4B +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +2 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myasthenic syndrome 4A +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided +3 more | GConflicting classifications of pathogenicity |